Objective Research in disorders of sex development (DSD) is hindered by a lack of standardized measures sensitive to the experiences of affected children and families. We developed and evaluated parent proxy (children 2-6 years) and parent self-report (children 2-6 years) health-related quality of life (HRQoL) instruments for DSD. Methods Items were derived from focus groups and open-ended interviews. Clarity and comprehensiveness were assessed with cognitive interviews. Psychometric properties were examined in a field survey of 94 families. Results Measures demonstrated adequate to good psychometrics, including internal consistency, test-retest reliability, convergent validity, and ability to detect known-group differences. Parents reported greatest stress on Early Experiences, Surgery, and Future Concerns scales. Conclusions These instruments identify patients' and families' needs, monitor health and quality of life status, and can evaluate clinical interventions. Findings highlight the need for improved psychosocial support during the diagnostic period, better parent-provider communication, and shared decision-making. HRQoL measures are needed for older youth.
- disorders of sex development
- health-related quality of life
- patient-reported outcome
- psychometric evaluation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Developmental and Educational Psychology